Tissue expression of COL6A2 - Summary - The Human Protein Atlas

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COL6A2

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	COL6A2
Gene description	Collagen, type VI, alpha 2
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Distinct expression in connective tissue with cytoplasmic expression in several cell types, mainly adipocytes and fibroblasts.

DATA RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data.
Reliability score	Supported based on 3 antibodies. HPA007029 , HPA030920 , HPA038799
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	COL6A2
Synonyms
Description	Collagen, type VI, alpha 2 (HGNC Symbol)
Entrez gene summary	This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Chromosome	21
Cytoband	q22.3
Chromosome location (bp)	46098097 - 46132849
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000142173 (version 83.38)
Entrez gene	1292
UniProt	P12110 (UniProt - Evidence at protein level)
neXtProt	NX_P12110
Antibodypedia	COL6A2 antibodies

PROTEIN BROWSER

COL6A2-001	COL6A2-002	COL6A2-003	COL6A2-004	COL6A2-005	COL6A2-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COL6A2-001 ENSP00000300527 ENST00000300527	P12110 [Direct mapping] Collagen alpha-2(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0009749 [response to glucose] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0042383 [sarcolemma] GO:0043234 [protein complex] GO:0070062 [extracellular exosome] GO:0070208 [protein heterotrimerization] GO:1903561 [extracellular vesicle] Show all	1019 aa 108.6 kDa	Yes	0
COL6A2-002 ENSP00000380870 ENST00000397763	P12110 [Direct mapping] Collagen alpha-2(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0043234 [protein complex] GO:0070062 [extracellular exosome] GO:0070208 [protein heterotrimerization] GO:1903561 [extracellular vesicle] Show all	918 aa 97.4 kDa	Yes	0
COL6A2-003 ENSP00000387115 ENST00000409416	P12110 [Direct mapping] Collagen alpha-2(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0043234 [protein complex] GO:0070062 [extracellular exosome] GO:0070208 [protein heterotrimerization] GO:1903561 [extracellular vesicle] Show all	828 aa 87.3 kDa	Yes	0
COL6A2-004 ENSP00000390418 ENST00000436769	C9JH44 [Direct mapping] Collagen alpha-2(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		180 aa 20 kDa	Yes	0
COL6A2-005 ENSP00000395751 ENST00000413758	H7C0M5 [Direct mapping] Collagen alpha-2(VI) chain Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		250 aa 25.5 kDa	No	0
COL6A2-201 ENSP00000312529 ENST00000310645	P12110 [Direct mapping] Collagen alpha-2(VI) chain Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005581 [collagen trimer] GO:0005615 [extracellular space] GO:0005788 [endoplasmic reticulum lumen] GO:0007155 [cell adhesion] GO:0007411 [axon guidance] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0030574 [collagen catabolic process] GO:0031012 [extracellular matrix] GO:0043234 [protein complex] GO:0070062 [extracellular exosome] GO:0070208 [protein heterotrimerization] GO:1903561 [extracellular vesicle] Show all	828 aa 87.3 kDa	Yes	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.